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Pediatrics Inborn Errors of Metabolism 75de221f

Wilson's disease is caused by defect in:

A
ATP 7A mutation
B
ATP 7B mutation
C
Ceruloplasmin
D
ATP 7C mutation
High-Yield Explanation
b. ATP 7B mutation(Ref: Nelson's 20/e p 1939-1940, Ghai 8/e p 320-321)The abnormal gene for Wilson disease is ATP7B on long arm of chromosome 13 (13q14.3)

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